Vulto-Van Silfhout-De Vries Syndrome (VSVS)

Vulto-Van Silfhout-De Vries Syndrome(来自ICD-11)

别称:

Vulto-Van Silfout-De Vries Syndrome

Intellectual Developmental Disorder with Impaired Expressive Speech and Behavioral Abnormalities, with or Without Seizures

Iddisbas

Mrd24

Vsvs

Mental Retardation, Autosomal Dominant 24

Autosomal Dominant Non-Syndromic Intellectual Disability 24

Mental Retardation, Autosomal Dominant, Type 24

Intellectual Disability, Autosomal Dominant 24

Autosomal Dominant Mental Retardation 24

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Vulto-Van Silfhout-De Vries Syndrome, also known as vulto-van silfout-de vries syndrome, is related to autism and fragile x syndrome. An important gene associated with Vulto-Van Silfhout-De Vries Syndrome is DEAF1 (DEAF1 Transcription Factor), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. Affiliated tissues include eye and brain, and related phenotypes are intellectual disability and gait disturbance

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